Clinical and neuropathologic findings in a woman with the FMR1 premutation and multiple sclerosis.

BACKGROUND Multiple sclerosis (MS) and fragile X-associated tremor/ataxia syndrome (FXTAS) have overlapping clinical signs and symptoms. OBJECTIVES To present a case with evidence of both MS and FXTAS and to discuss the relationship of both disorders. DESIGN Case report. SETTING Fragile X Research and Treatment Center at the University of California, Davis, Medical Center. Patient Woman with the FMR1 premutation who died of MS at the age of 52 years. MAIN OUTCOME MEASURES Magnetic resonance imaging, physical examination, and neuropathologic examination results. RESULTS Magnetic resonance imaging, physical examination, and autopsy neuropathologic examination revealed diagnostic features of MS and FXTAS. CONCLUSION The molecular mechanism of RNA toxicity, including the elevation of alphaB-crystallin levels observed in FXTAS, may lead to enhanced predisposition to autoimmune diseases.